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Diseases

Centro de Información sobre Enfermedades Genéticas y Raras

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Acondroplasia

Information in English

Vea por favor el Aviso Legal sobre nuestra responsabilidad respecto a la información proporcionada en este sitio. Algunos enlaces en esta página pueden llevarlo a páginas en la red que pertenecen a organizaciones que nos son parte de los Institutos Nacionales de Salud.

Señales y Síntomas

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What are the signs and symptoms of Acondroplasia?

The Human Phenotype Ontology provides the following list of signs and symptoms for Acondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the metaphyses 90%
Abnormality of the ribs 90%
Anteverted nares 90%
Brachydactyly syndrome 90%
Depressed nasal bridge 90%
Frontal bossing 90%
Genu varum 90%
Hyperlordosis 90%
Limb undergrowth 90%
Macrocephaly 90%
Otitis media 90%
Short stature 90%
Skeletal dysplasia 90%
Abnormal form of the vertebral bodies 50%
Abnormality of pelvic girdle bone morphology 50%
Abnormality of the teeth 50%
Apnea 50%
Conductive hearing impairment 50%
Hyperhidrosis 50%
Intrauterine growth retardation 50%
Joint hypermobility 50%
Kyphosis 50%
Long thorax 50%
Malar flattening 50%
Muscular hypotonia 50%
Narrow chest 50%
Obesity 50%
Ventriculomegaly 50%
Acanthosis nigricans 7.5%
Elbow dislocation 7.5%
Hydrocephalus 7.5%
Limitation of joint mobility 7.5%
Neurological speech impairment 7.5%
Spinal canal stenosis 7.5%
Sudden cardiac death 7.5%

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.



Vea por favor el Aviso Legal sobre nuestra responsabilidad respecto a la información proporcionada en este sitio. Algunos enlaces en esta página pueden llevarlo a páginas en la red que pertenecen a organizaciones que nos son parte de los Institutos Nacionales de Salud.